(Q44432647)

2 December 2017

A new type of chondrodysplasia punctata associated with peroxisomal dysfunction (English)

1 reference

chondrodysplasia punctata

19 November 2022

main subject

1 reference

1 reference

19 November 2022

author name string

B. T. Poll-The

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1770792

19 November 2022

P. Maroteaux

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1770792

19 November 2022

C. Narcy

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1770792

19 November 2022

P. Quetin

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1770792

19 November 2022

M. Guesnu

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1770792

19 November 2022

R. J. Wanders

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1770792

19 November 2022

R. B. Schutgens

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1770792

19 November 2022

J. M. Saudubray

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1770792

19 November 2022

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=1770792

19 November 2022

publication date

1 January 1991

1 reference

full work available at URL

2 December 2017

https://onlinelibrary.wiley.com/doi/pdf/10.1007/BF01811703

1 reference

Journal of Inherited Metabolic Disease

19 November 2022

published in

1 reference

2 December 2017

14

1 reference

2 December 2017

361-363

1 reference

2 December 2017

3

1 reference

https://scigraph.springernature.com/pub.10.1007/bf01811703

2 December 2017

0 references

cites work

Deficiency of acyl-CoA: dihydroxyacetone phosphate acyltransferase in patients with Zellweger (cerebro-hepato-renal) syndrome.

1 reference

12 December 2020

Rhizomelic chondrodysplasia punctata: another peroxisomal disorder.

1 reference

12 December 2020

Phytanic acid oxidase activity in cultured skin fibroblasts. Diagnostic usefulness and limitations

1 reference

12 December 2020

Biochemical abnormalities in rhizomelic chondrodysplasia punctata

1 reference

12 December 2020

Activity of peroxisomal enzymes and intracellular distribution of catalase in Zellweger syndrome.

1 reference

12 December 2020

Peroxisomal enzyme deficiency in the Conradi-Hunerman form of chondrodysplasia punctata

1 reference

12 December 2020

Peroxisomal enzyme deficiency in X-linked dominant Conradi-Hünermann syndrome

1 reference

12 December 2020

Peroxisomal beta-oxidation enzyme proteins in the Zellweger syndrome

1 reference

12 December 2020

Primary hyperparathyroidism associated with pancytosis

3

1 reference

19 November 2022

Identifiers

DOI

10.1007/BF01811703

1 reference

2 December 2017

1 reference